Associated Papers
Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.
Li J et al.
Genes & Diseases, 2026
Computational studies on the functional and structural impact of pathogenic mutations in enzymes.
Dissanayake UC et al.
Protein Science : a Publication of the Protein Society, 2025
Mechanistic Basis for a Single Amino Acid Residue Mutation Causing Human DNA Ligase 1 Deficiency, A Rare Pediatric Disease.
Zalenski N et al.
Journal of Molecular Biology, 2024
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.
Alajlan H et al.
Journal of Clinical Immunology, 2024
Structural and biochemical characterization of LIG1 during mutagenic nick sealing of oxidatively damaged ends at the final step of DNA repair.
Balu KE et al.
Biorxiv : the Preprint Server for Biology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.
Zhao B et al.
Bmc Cancer, 2024
Uncovering nick DNA binding by LIG1 at the single-molecule level.
Chatterjee S et al.
Biorxiv : the Preprint Server for Biology, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
DNA ligase I variants fail in the ligation of mutagenic repair intermediates with mismatches and oxidative DNA damage.
Tang Q et al.
Mutagenesis, 2020
Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.
Maffucci P et al.
The Journal of Clinical Investigation, 2018
Genome-wide ENU mutagenesis in combination with high density SNP analysis and exome sequencing provides rapid identification of novel mouse models of developmental disease.
Caruana G et al.
Plos One, 2013
Variation in base excision repair capacity.
Wilson DM et al.
Mutation Research, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Human DNA ligase I completely encircles and partially unwinds nicked DNA.
Pascal JM et al.
Nature, 2004
In vitro mutagenesis and functional expression in Escherichia coli of a cDNA encoding the catalytic domain of human DNA ligase I.
Kodama K et al.
Nucleic Acids Research, 1991
DNA ligase I fidelity mediates the mutagenic ligation of pol β oxidized and mismatch nucleotide insertion products in base excision repair.
Kamble P et al.
The Journal of Biological Chemistry, 0
Impact of DNA Ligase 1 Genotypes on Childhood Acute Lymphocytic Leukemia.
Hsu PC et al.
In Vivo (athens, Greece), 0